Canonical Allele Identifier: CA2678796821

Gene: PEX6

Linked Data

• gnomAD v4: 6-42969700-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969701del , CM000668.2:g.42969701del	GRCh38
NC_000006.11:g.42937439del , CM000668.1:g.42937439del	GRCh37
NC_000006.10:g.43045417del	NCBI36
NG_008370.1:g.14543del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1334del MANE Select	ENSP00000303511.8:p.Leu445ProfsTer5
ENST00000244546.4:c.1334del	ENSP00000244546.4:p.Leu445ProfsTer5
ENST00000304611.12:c.1334del	ENSP00000303511.8:p.Leu445ProfsTer5
NM_000287.3:c.1334del	NP_000278.3:p.Leu445ProfsTer5
NM_001316313.1:c.1070del	NP_001303242.1:p.Leu357ProfsTer5
NR_133009.1:n.1427del
XM_011514661.1:c.1250del	XP_011512963.1:p.Leu417ProfsTer5
XR_926246.1:n.1427del
XM_011514661.2:c.1250del	XP_011512963.1:p.Leu417ProfsTer5
XR_001743466.2:n.2408del
NM_000287.4:c.1334del MANE Select	NP_000278.3:p.Leu445ProfsTer5
NM_001316313.2:c.1070del	NP_001303242.1:p.Leu357ProfsTer5
NR_133009.2:n.1365del